Search
Results: 7
Immunoseq
A Morin, T Kwan, B Ge, L Letourneau, M Ban, K Tandre, M Caron, JK Sandling, J Carlsson, G Bourque, C Laprise, A Montpetit, A-C Syvanen, L Ronnblom, SJ Sawcer, MG Lathrop, T Pastinen
Feb 13, 2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Iris E Jansen, Hui Ye, Sasja Heetveld, Marie C Lechler, Helen Michels, Renée I Seinstra, Steven J Lubbe, Valérie Drouet, Suzanne Lesage, Elisa Majounie, J Raphael Gibbs, Mike A Nalls, Mina Ryten, Juan A Botia, Jana Vandrovcova, Javier Simon-Sanchez, Melissa Castillo-Lizardo, Patrizia Rizzu, Cornelis Blauwendraat, Amit K Chouhan, Yarong Li, Puja Yogi, Najaf Amin, Cornelia M van Duijn, International Parkinson’s Disease Genetics Consortium (IPGDC), Huw R Morris, Alexis Brice, Andrew B Singleton, Della C David, Ellen A Nollen, Shushant Jain, Joshua M Shulman, Peter Heutink
Nov 13, 2017
BACKGROUND: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated...
animal model Functional screening Genomics Loss-of-function Mitochondria Parkin Parkinson’s disease rare variants whole-exome sequencing α-synuclein Adolescent Adult Animals Animals Genetically Modified Caenorhabditis elegans Case-Control Studies Cells Cultured Child Disease Models Animal Drosophila melanogaster Exome Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Middle Aged Parkinson Disease RNA Interference Sequence Analysis DNA Young Adult ALPHA-SYNUCLEIN
BOADICEA
Andrew Lee, Nasim Mavaddat, Amber N Wilcox, Alex P Cunningham, Tim Carver, Simon Hartley, Chantal Babb de Villiers, Angel Izquierdo, Jacques Simard, Marjanka K Schmidt, Fiona M Walter, Nilanjan Chatterjee, Montserrat Garcia-Closas, Marc Tischkowitz, Paul Pharoah, Douglas F Easton, Antonis C Antoniou
Jan 28, 2019
PURPOSE: Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA)...
BOADICEA PRS Breast Cancer rare variants Risk prediction Ataxia Telangiectasia Mutated Proteins BRCA1 Protein BRCA2 Protein Breast Neoplasms Checkpoint Kinase 2 Fanconi Anemia Complementation Group N Protein Female Genetic Predisposition to Disease Genetic Testing Humans Multifactorial Inheritance Mutation Ovarian Neoplasms Polymorphism Single Nucleotide Risk Assessment Risk Factors
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.
Stefanie H Mueller, Alvina G Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Thais Baert, Laura E Beane Freeman, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y Brucker, Saundra S Buys, Jose E Castelao, Tsun L Chan, Jenny Chang-Claude, Stephen J Chanock, Ji-Yeob Choi, Wendy K Chung, NBCS Collaborators, Sarah V Colonna, CTS Consortium, Sten Cornelissen, Fergus J Couch, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Laure Dossus, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Christoph Engel, D Gareth Evans, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat García-Closas, José A García-Sáenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guénel, Melanie Gündert, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Elaine F Harkness, Patricia A Harrington, Jaana M Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J Hooning, Reiner Hoppe, John L Hopper, Richard S Houlston, Anthony Howell, David J Hunter, Dezheng Huo, ABCTB Investigators, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M John, Michael E Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K Khusnutdinova, Sung-Won Kim, Cari M Kitahara, Stella Koutros, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, Ava Kwong, James V Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A Murphy, Heli Nevanlinna, William G Newman, Dieter Niederacher, Katie M O'Brien, Nadia Obi, Kenneth Offit, Olufunmilayo I Olopade, Andrew F Olshan, Håkan Olsson, Sue K Park, Alpa V Patel, Achal Patel, Charles M Perou, Julian Peto, Paul DP Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U Rashid, Gad Rennert, Atocha Romero, Kathryn J Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Michael O Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M Tamimi, William J Tapper, Jack A Taylor, Soo Hwang Teo, Lauren R Teras, Amanda E Toland, Rob AEM Tollenaar, Diana Torres, Gabriela Torres-Mejía, Melissa A Troester, Thérèse Truong, Celine M Vachon, Joseph Vijai, Clarice R Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H Wu, Taiki Yamaji, Xiaohong R Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M Dunning, Douglas F Easton, Harry Hemingway, Ute Hamann, Karoline B Kuchenbaecker
Feb 26, 2023
BACKGROUND: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. METHODS: We...
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Abstract
Background
Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can...
Stefanie H Mueller, Alvina G Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Thais Baert, Laura E Beane Freeman, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y Brucker, Saundra S Buys, Jose E Castelao, Tsun L Chan, Jenny Chang-Claude, Stephen J Chanock, Ji-Yeob Choi, Wendy K Chung, Kristine K Sahlberg, Anne-Lise Børresen-Dale, Lars Ottestad, Rolf Kåresen, Ellen Schlichting, Marit Muri Holmen, Toril Sauer, Vilde Haakensen, Olav Engebråten, Bjørn Naume, Alexander Fosså, Cecile E Kiserud, Kristin V Reinertsen, Åslaug Helland, Margit Riis, Jürgen Geisler, Grethe I Grenaker Alnæs, Sarah V Colonna, Sten Cornelissen, Fergus J Couch, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Laure Dossus, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Christoph Engel, D Gareth Evans, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat García-Closas, José A García-Sáenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guénel, Melanie Gündert, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Elaine F Harkness, Patricia A Harrington, Jaana M Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J Hooning, Reiner Hoppe, John L Hopper, Richard S Houlston, Anthony Howell, David J Hunter, Dezheng Huo, Deborah Marsh, Rodney Scott, Robert Baxter, Desmond Yip, Jane Carpenter, Alison Davis, Nirmala Pathmanathan, Peter Simpson, Dinny Graham, Mythily Sachchithananthan, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M John, Michael E Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K Khusnutdinova, Sung-Won Kim, Cari M Kitahara, Stella Koutros, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, Ava Kwong, James V Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A Murphy, Heli Nevanlinna, William G Newman, Dieter Niederacher, Katie M O’Brien, Nadia Obi, Kenneth Offit, Olufunmilayo I Olopade, Andrew F Olshan, Håkan Olsson, Sue K Park, Alpa V Patel, Achal Patel, Charles M Perou, Julian Peto, Paul DP Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U Rashid, Gad Rennert, Atocha Romero, Kathryn J Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Michael O Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M Tamimi, William J Tapper, Jack A Taylor, Soo Hwang Teo, Lauren R Teras, Amanda E Toland, Rob AEM Tollenaar, Diana Torres, Gabriela Torres-Mejía, Melissa A Troester, Thérèse Truong, Celine M Vachon, Joseph Vijai, Clarice R Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H Wu, Taiki Yamaji, Xiaohong R Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M Dunning, Douglas F Easton, Harry Hemingway, Ute Hamann, Karoline B Kuchenbaecker
Jan 26, 2023
Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.
Despoina Manousaki, Ruth Mitchell, Tom Dudding, Simon Haworth, Adil Harroud, Vincenzo Forgetta, Rupal L Shah, Jian'an Luan, Claudia Langenberg, Nicholas J Timpson, J Brent Richards
Jan 14, 2021
We aimed to increase our understanding of the genetic determinants of vitamin D levels by undertaking a large-scale genome-wide association study (GWAS) of serum 25 hydroxyvitamin D (25OHD). To do so, we used imputed genotypes...